scholarly journals Osteogenesis imperfecta: an overview

2020 ◽  
Author(s):  
SMH Phonela ◽  
R Goller ◽  
M Karsas
Keyword(s):  
Osteogenesis Imperfecta ◽  
Relevant Information ◽  
Classification Systems ◽  
Orthopaedic Surgeon ◽  
Current Evidence ◽  
Clinical Aspects ◽  
Osteogenesis Imperfecta Type ◽  
Comprehensive Overview ◽  
Level Of Evidence ◽  
Metabolic Bone Disorder

ABSTRACT Osteogenesis imperfecta (OI) is a metabolic bone disorder commonly encountered in orthopaedic practice within the context of a multidisciplinary team. Although relatively rare, it is among the most researched of the skeletal dysplasias, making it challenging for the general orthopaedic surgeon to keep abreast with current evidence. The aim of this review article is to provide a comprehensive overview of OI for the general orthopaedic surgeon. It touches on the relevant epidemiology, pathology and clinical aspects of the condition. A discussion of the background and current topical issues surrounding the classification systems, and the medical and orthopaedic management aspects follows. The main focus of this review is on the peri-operative orthopaedic care of the appendicular musculoskeletal system. We trust it will equip the general orthopaedic surgeon with concise, up-to-date and relevant information to efficiently manage affected patients and caregivers in South Africa. Level of evidence: Level 5 Keywords: osteogenesis imperfecta, type 1 collagen, multidisciplinary management, bisphosphonates, Fassier-Duval rods

scholarly journals Systematic review on wearable lower-limb exoskeletons for gait training in neuromuscular impairments

2021 ◽  
Vol 18 (1) ◽  
Author(s):  
Antonio Rodríguez-Fernández ◽  
Joan Lobo-Prat ◽  
Josep M. Font-Llagunes
Keyword(s):  
Systematic Review ◽  
Clinical Efficacy ◽  
Lower Limb ◽  
Gait Training ◽  
Health Conditions ◽  
Current Evidence ◽  
Clinical Aspects ◽  
Gait Rehabilitation ◽  
Comprehensive Overview ◽  
Walking Aids

AbstractGait disorders can reduce the quality of life for people with neuromuscular impairments. Therefore, walking recovery is one of the main priorities for counteracting sedentary lifestyle, reducing secondary health conditions and restoring legged mobility. At present, wearable powered lower-limb exoskeletons are emerging as a revolutionary technology for robotic gait rehabilitation. This systematic review provides a comprehensive overview on wearable lower-limb exoskeletons for people with neuromuscular impairments, addressing the following three questions: (1) what is the current technological status of wearable lower-limb exoskeletons for gait rehabilitation?, (2) what is the methodology used in the clinical validations of wearable lower-limb exoskeletons?, and (3) what are the benefits and current evidence on clinical efficacy of wearable lower-limb exoskeletons? We analyzed 87 clinical studies focusing on both device technology (e.g., actuators, sensors, structure) and clinical aspects (e.g., training protocol, outcome measures, patient impairments), and make available the database with all the compiled information. The results of the literature survey reveal that wearable exoskeletons have potential for a number of applications including early rehabilitation, promoting physical exercise, and carrying out daily living activities both at home and the community. Likewise, wearable exoskeletons may improve mobility and independence in non-ambulatory people, and may reduce secondary health conditions related to sedentariness, with all the advantages that this entails. However, the use of this technology is still limited by heavy and bulky devices, which require supervision and the use of walking aids. In addition, evidence supporting their benefits is still limited to short-intervention trials with few participants and diversity among their clinical protocols. Wearable lower-limb exoskeletons for gait rehabilitation are still in their early stages of development and randomized control trials are needed to demonstrate their clinical efficacy.

scholarly journals Systematic Review on Wearable Lower-Limb Exoskeletons for Gait Training in Neuromuscular Impairments

2020 ◽  
Author(s):  
Antonio Rodríguez-Fernández ◽  
Joan Lobo-Prat ◽  
Josep M. Font-Llagunes
Keyword(s):  
Systematic Review ◽  
Clinical Efficacy ◽  
Lower Limb ◽  
Gait Training ◽  
Health Conditions ◽  
Current Evidence ◽  
Clinical Aspects ◽  
Gait Rehabilitation ◽  
Comprehensive Overview ◽  
Walking Aids

Abstract Gait disorders can reduce the quality of life for people with neuromuscular impairments. Therefore, walking recovery is one of the main priorities for counteracting sedentary lifestyle, reducing secondary health conditions and restoring legged mobility. At present, wearable powered lower-limb exoskeletons are emerging as a revolutionary technology for robotic gait rehabilitation. This systematic review provides a comprehensive overview on wearable lower-limb exoskeletons for people with neuromuscular impairments, addressing the following three questions: (1) what is the current technological status of wearable lower-limb exoskeletons for gait rehabilitation?, (2) what is the methodology used in the clinical validations of wearable lower-limb exoskeletons?, and (3) what are the benefits and current evidence on clinical efficacy of wearable lower-limb exoskeletons? We analyzed 87 clinical studies focusing on both device technology (e.g., actuators, sensors, structure) and clinical aspects (e.g., training protocol, outcome measures, patient impairments), and make available the database with all the compiled information. The results of the literature survey reveal that wearable exoskeletons have potential for a number of applications including early rehabilitation, promoting physical exercise, and carrying out daily living activities both at home and the community. Likewise, wearable exoskeletons may improve mobility and independence in non-ambulatory people, and may reduce secondary health conditions related to sedentariness, with all the advantages that this entails. However, the use of this technology is still limited by heavy and bulky devices, which require supervision and the use of walking aids. In addition, evidence supporting their benefits is still limited to short-intervention trials with few participants and diversity among their clinical protocols. Wearable lower-limb exoskeletons for gait rehabilitation are still in their early stages of development and randomized control trials are needed to demonstrate their clinical efficacy.

scholarly journals Systematic Review on Wearable Lower-Limb Exoskeletons for Gait Training in Neuromuscular Impairments

2020 ◽  
Author(s):  
Antonio Rodríguez-Fernández ◽  
Joan Lobo-Prat ◽  
Josep M. Font-Llagunes
Keyword(s):  
Systematic Review ◽  
Clinical Efficacy ◽  
Lower Limb ◽  
Gait Training ◽  
Health Conditions ◽  
Current Evidence ◽  
Clinical Aspects ◽  
Gait Rehabilitation ◽  
Comprehensive Overview ◽  
Walking Aids

Abstract Gait disorders can reduce the quality of life for people with neuromuscular impairments. Therefore, walking recovery is one of the main priorities for counteracting sedentary lifestyle, reducing secondary health conditions and restoring legged mobility. At present, wearable powered lower-limb exoskeletons are emerging as a revolutionary technology for robotic gait rehabilitation. This systematic review provides a comprehensive overview on wearable lower-limb exoskeletons for people with neuromuscular impairments, addressing the following three questions: (1) what is the current technological status of wearable lower-limb exoskeletons for gait rehabilitation?, (2) what are the benefits and risks for exoskeleton users?, and (3) what is the current evidence on clinical efficacy for wearable exoskeletons?. We analyzed 87 clinical studies focusing on both device technology (e.g., actuators, sensors, structure) and clinical aspects (e.g., training protocol, outcome measures, patient impairments), and make available the database with all the compiled information. The results of the literature survey reveal that wearable exoskeletons have potential for a number of applications including early rehabilitation, promoting physical exercise, and carrying out daily living activities both at home and the community. Likewise, wearable exoskeletons may improve mobility and independence in non-ambulatory people, and may reduce secondary health conditions related to sedentariness, with all the advantages that this entails. However, the use of this technology is still limited by heavy and bulky devices, which require supervision and the use of walking aids. In addition, evidence supporting their benefits is still limited to short-intervention trials with few participants and diversity among their clinical protocols. Wearable lower-limb exoskeletons for gait rehabilitation are still in their early stages of development and randomized control trials are needed to demonstrate their clinical efficacy.

A new start-codon in IFITM5 causes osteogenesis imperfecta type V

2013 ◽  
Author(s):  
Semler Oliver ◽  
Hoyer-Kuhn Heike ◽  
Garbes Lutz ◽  
Netzer Christian ◽  
Schoenau Eckhard
Keyword(s):  
Osteogenesis Imperfecta ◽  
Start Codon ◽  
Osteogenesis Imperfecta Type ◽  
Type V

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

2020 ◽  
Author(s):  
Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
Galina Melnichenko ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Rare Mutation ◽  
Type V

NANOINDENTATION MEASUREMENT ON INTERSTITIAL AND OSTEON OF BONE WITH OSTEOGENESIS IMPERFECTA-TYPE III

2019 ◽  
Vol 42 (4) ◽  
pp. 168-171
Author(s):  
N. A. Azizan ◽  
K. S. Basaruddin ◽  
M. H. Mat Som ◽  
S. F. Khan ◽  
A. R. Sulaiman ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type Iii ◽  
Nanoindentation Measurement

A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I

Bone ◽  
2019 ◽  
Vol 127 ◽  
pp. 646-655 ◽  
Author(s):  
Yi Liu ◽  
Jianhai Wang ◽  
Shuo Liu ◽  
Mingjie Kuang ◽  
Yaqing Jing ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Murine Model ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Transgenic Murine Model ◽  
Brittle Bones ◽  
Osteogenesis Imperfecta Type I

Müller-Weiss Disease: The Descriptive Factors of Failure Conservative Treatment

2021 ◽  
pp. 107110072110028
Author(s):  
Thos Harnroongroj ◽  
Theerawoot Tharmviboonsri ◽  
Bavornrit Chuckpaiwong
Keyword(s):  
Regression Analysis ◽  
Conservative Treatment ◽  
Demographic Characteristics ◽  
Classification Systems ◽  
Clinical Severity ◽  
P Value ◽  
Level Of Evidence ◽  
Factors Associated ◽  
Radiographic Parameters ◽  
Significant Difference

Background: Conservative treatment is the first-line approach for Müller-Weiss disease (MWD). However, factors associated with the failure of conservative treatment have never been reported. Our objectives were to compare the differences in demographic and radiographic parameters between “successful” and “failure” conservative treatment in patients with MWD and identify descriptive factors associated with failure conservative treatment. Methods: We retrospectively reviewed 68 patients with MWD divided into 29 “failure” and 39 “successful” conservative treatment groups. Demographic characteristics, Foot and Ankle Outcome Score (FAOS), visual analog scale (VAS) scores for pain and walking disability, and radiographic parameters such as calcaneal pitch, lateral Meary, anteroposterior (AP) Meary angle, and talonavicular-naviculocuneiform arthritis were compared. Logistic regression analysis was performed to identify descriptive factors of failure conservative treatment. A P value <.05 was considered a statistically significant difference. Results: We found more severe VAS pain and walking disability scores and FAOS for the pain, activities of daily living, and quality of life subscales in the failure group ( P < .05). Regression analysis demonstrated 2 significant descriptive factors associated with failure conservative treatment: abducted AP Meary angle >13.0 degrees and radiographic talonavicular arthritis. No demographic characteristics were found to be associated with failure conservative treatment. Conclusion: Midfoot abduction (AP Meary angle, >13 degrees) and radiographic talonavicular arthritis were factors associated with failure conservative treatment in MWD and should be determined concurrently with the clinical severity. Classification systems for MWD should include these factors. Level of evidence: Level III, retrospective comparative study.

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